Autism: considerations for transitions of care into adulthood.

PURPOSE OF REVIEW: The steady rise in number of youth diagnosed with autism spectrum disorder (ASD) has led to the need to examine transition of care considerations specific to ASD. Improved understanding and guidance addressing these needs will allow pediatric and adult providers to work together to optimize social, medical, and occupational outcomes for these patients. RECENT FINDINGS: Health-care transition is a delicate time when children with ASD outgrow the services of pediatric programs and enter a fragmented healthcare system that is unfamiliar, insufficiently knowledgeable, and underfunded for their needs. SUMMARY: Increasing autism prevalence and an aging population with autism lend urgency to improve outcomes in children transitioning to adult-care. Research reveals poor consequences in social support, education, vocational training and employment, housing, and healthcare. Specific considerations to address these issues and ensure successful transition from pediatric to adult care are needed.

The Case of the Rare Malformation and Rare Variant: An Infant with a Self-Embolized Torcular Dural Sinus Malformation and a Concomitant Prothrombin Variant.

Torcular dural sinus malformations (tDSMs) can occur in the brain during prenatal development. These rare vascular malformations occur in less than 1% of the population but can lead to a poor prognosis secondary to congestive heart failure and hydrocephalus. Many tDSM cases require surgical embolization or coiling to return normal cerebral blood flow and prevent mortality and morbidity. We describe the first case of spontaneous self-embolization of a large torcular dural sinus malformation, possibly due to hypercoagulability from a comorbid prothrombin gene variant. Despite a grim prognosis at birth, the child is alive and thriving at age 3, with only mild speech delay.

A Case of a Seven-Year-old boy with Epilepsy with Myoclonic Absence: Importance of Seizure Semiology, Genetic Etiology, and Electroencephalogram Correlation for Timely Intervention.

Epilepsy with myoclonic absence (EMA) is a rare disorder with a mean age of onset of 7 years. It is characterized clinically by rhythmic, myoclonic jerking of the head, extremities or both, with impairment of consciousness and an ictal electroencephalogram (EEG) pattern of 3 Hz bilateral, synchronous and symmetrical spike and wave discharges. Prognosis is guarded and most patients are pharmaco-resistant. We present a case of EMA, found to have a FOXP1 gene pathogenic variation and a variance of unknown significance in the MBD5 gene, who was admitted to the intensive care unit in super-refractory status epilepticus. Given the overlap in symptoms of syndromes including myoclonic-astatic epilepsy, childhood absence epilepsy and juvenile myoclonic epilepsy, a detailed seizure semiology with EEG correlation, cannot be over emphasized. In this case, the genetic etiology may lend an interesting insight to the severity and prognosis.

Early Identification of DMD in the Setting of West Syndrome.

Duchene muscular dystrophy (DMD) is the most common muscular dystrophy in childhood, affecting ∼1:5000 male live births worldwide. DMD is a genetic disorder with X-linked recessive inheritance pattern characterized by a severe muscular phenotype with progressive muscle weakness and atrophy due to pathogenic variations within the DMD gene. Two cases are reported to date in the literature of individuals with a diagnosis of both DMD and West syndrome; neither of which had the degree of additional genetic abnormalities that our patient demonstrates. We present a male infant with West syndrome, and multiple pathogenic variants, the ominous one being in the DMD gene. This case adds to confirming that West syndrome expands the spectrum of epilepsy that may be present in DMD patients. Additionally, this case can identify how the early use of steroids may shed light on effects of early symptomatic treatment of DMD.

Neonatal Epileptic Encephalopathies.

The majority of neonatal seizures are related to common diagnoses, including hypoxic-ischemic encephalopathy and intraventricular hemorrhage. While relatively uncommon, neonatal epileptic encephalopathies represent an important group of neonatal seizure disorders that require immediate diagnosis and intervention. In this review, we provide a summary of the benign and severe neonatal epilepsy syndromes. While benign epilepsy syndromes have favorable prognoses, rapid and accurate diagnosis may prevent an unnecessarily long course of antiseizure medications. The severe epilepsy syndromes may be related to a number of underlying genetic disorders and often carry a poor prognosis. Herein we review diagnostic and therapeutic strategies, and provide a set or algorithms for said purposes.

Neurology of Sleep.

Healthy sleep, including proper amounts in the 24-hour day/night period, is crucial for developing children. Sleep development in infants and children is characterized by increased amounts of sleep, including rapid eye movement and non-rapid eye movement (NREM) slow-wave sleep. Expected changes as well as deviations may contribute to sleep problems, which are common in typically developing children and very common in those with neurodevelopmental disorders and often are chronic. Periodic screening of children for sleep problems is important for timely and effective management of these.

Morbidity and mortality with early pulmonary haemorrhage in preterm neonates.

OBJECTIVE: There are no large studies evaluating pulmonary haemorrhage (PH) in premature infants. We sought to quantify the clinical characteristics, morbidities and mortality associated with early PH. DESIGN: Data were abstracted from the Pediatrix Clinical Data Warehouse, a large de-identified data set. For incidence calculations, we included infants from 340 Pediatrix United States Neonatal Intensive Care Units from 2005 to 2014 without congenital anomalies. Infants <28 weeks' gestation with PH within 7 days of birth were then matched with two controls for birth weight, gestational age, gender, antenatal steroid exposure, day of life 0 or 1 intubation and multiple gestation. RESULTS: From 596 411 total infants, we identified 2799 with a diagnosis of PH. Peak incidence was 86.9 cases per 1000 admissions for neonates born at 24 weeks' gestation. We then identified 1476 infants <28 weeks' gestation with an early PH diagnosis at ≤7 days of age of which 1363 (92.3%) were successfully matched. Patients with early PH had significantly higher exposure to poractant alfa (35.4% vs 28%), diagnosis of shock (63.7% vs 51%) and grade IV intraventricular haemorrhage (20.8% vs 6%). Patients with PH also had significantly higher mortality rates at 7 days of age (40.6% vs 18.9%), 30 days of age (54% vs 28.8%) and prior to discharge (56.9% vs 33.7). CONCLUSION: In this large cohort of premature infants, we found PH to be common among the most premature babies. Early PH was associated with significant morbidity and mortality in excess of 50%. A renewed focus on the underlying pathophysiology and prevention of PH is warranted.